research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
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930-960 / 1000+ resultsresearch 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case
A 13-year-old boy had both lichen planus and vitiligo, suggesting a possible link between the two conditions.
research Distinguishing histopathologic features of acantholytic dermatoses and the pattern of acantholytic hypergranulosis
Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
research An unusual anatomical colocalization of alopecia areata and vitiligo in a child, and improvement during treatment with topical prostaglandin E2
Topical prostaglandin E2 can help treat both alopecia areata and vitiligo.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation
We know less about human hair pigmentation than mouse coat color, but pH and cysteine levels are key factors.
research Surgical Management of Leukotrichia
Surgical repigmentation can permanently restore color to white hair in vitiligo patients.
research Perinevoid Alopecia: Report of Two Cases and Literature Review
Antigens from skin cells may cause hair loss in perinevoid alopecia.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Skin Hyperpigmentation and Increased Angiogenesis Secondary to Vitamin B12 Deficiency in a Young Vegetarian Woman
Vitamin B12 deficiency can cause skin darkening and increased blood vessels, but treatment can improve symptoms.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Skin Hyperpigmentation in Complex Regional Pain Syndrome (CRPS) (P3.315)
Skin pigmentation increases in CRPS-affected areas and improves with symptom relief.
research Is increased constitutive skin and hair pigmentation an early sign of puberty?
Darker skin in 10-year-old girls may be an early sign of puberty.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research The Skin and Subcutaneous Tissues
The document concludes that skin and nail changes can indicate various underlying health conditions.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Nail Hyperpigmentation Following Valproic Acid Use: A Rare Case Report
Valproic acid can rarely cause reversible nail discoloration.
research Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart?
Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Sox2 in the dermal papilla regulates hair follicle pigmentation
Sox2 controls hair color by affecting pigment production in hair follicles.